{"id":"W2172078705","doi":"10.1210/jc.2004-0280","title":"A Single-Base Mutation in the Peroxisome Proliferator-Activated Receptor γ4 Promoter Associated with Altered<i>in Vitro</i>Expression and Partial Lipodystrophy","year":2004,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Nuclear Structure and Function","field":"Biochemistry, Genetics and Molecular Biology","cited_by":73,"is_retracted":false,"has_abstract":true,"ca_institutions":"Robarts Clinical Trials; Western University","funders":"Robarts Research Institute; Canadian Institutes of Health Research; Heart and Stroke Foundation of Canada","keywords":"Peroxisome proliferator-activated receptor gamma; LMNA; Biology; Mutation; Lipodystrophy; Exon; Peroxisome proliferator-activated receptor; Molecular biology; Gene isoform; Coding region; Genetics; Receptor; Gene","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009799795,0.0006832848,0.0002319879,0.0004445463,0.0002448381,0.0001864404,0.0003215116,0.0006244869,0.001616836],"category_scores_gemma":[0.0004223275,0.0002272004,0.0004335143,0.0002379536,0.0004806107,0.00008689673,0.0003247425,0.0005536534,0.0006796644],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003162593,"about_ca_system_score_gemma":0.0002397529,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001108688,"about_ca_topic_score_gemma":0.000706911,"domain_scores_codex":[0.9998626,0.00003080273,0.00002140319,0.00003683114,0.00002703102,0.00002125337],"domain_scores_gemma":[0.9997181,0.0001059457,0.00009657752,0.00001610018,0.00001491132,0.0000484106],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005443647,0.0001625918,0.006412943,0.0001238871,0.00007485554,0.06014559,0.0002019219,0.0004656398,0.9226483,0.000592896,0.0004740412,0.008153029],"study_design_scores_gemma":[0.0002797394,0.001386709,0.07017668,0.0001027369,0.0002822955,0.3596777,0.0002396103,0.003566242,0.5473301,0.0007321376,0.01611675,0.00010922],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920603,0.0005511531,0.004609629,0.0002566302,0.00009829814,0.00005949208,0.0004521743,0.0001921217,0.001720207],"genre_scores_gemma":[0.9943545,0.000470853,0.00239894,0.0001435198,0.00004785966,0.00003331508,0.0006566855,0.00006896834,0.001825296],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001616836,"threshold_uncertainty_score":0.005408883,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02176841215576108,"score_gpt":0.2840224984380858,"score_spread":0.2622540862823247,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}